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	osteogenesis imperfecta

Disease ID	128
Disease	osteogenesis imperfecta
Definition	COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
Synonym	brittle bone disease brittle bone syndrome fragilitas ossium oi - osteogenesis imperfecta ossiums, fragilitas osteogenesis imperfecta (disorder) osteogenesis imperfecta [disease/finding] osteogenesis imperfecta nos osteogenesis imperfecta nos (disorder) osteogenesis imperfecta, nos osteopsathyrosis osteopsathyrosis (disorder) vrolik's disease
Orphanet	ORPHANET:666
DOID	DOID:12347
ICD10	ICD10CM:Q78.0
UMLS	C0029434
MeSH	D010013
SNOMED-CT	SNOMEDCT_US_2016_09_01:78314001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:31) C0011436 \| dentinogenesis imperfecta \| 5 C0029456 \| osteoporosis \| 4 C0018799 \| heart disease \| 3 C0018824 \| valvular heart disease \| 2 C0036439 \| scoliosis \| 2 C0007570 \| celiac disease \| 1 C0029408 \| osteoarthritis \| 1 C0022821 \| kyphosis \| 1 C0010051 \| coronary artery aneurysm \| 1 C0008479 \| chondrosarcoma \| 1 C0006142 \| breast cancer \| 1 C0002766 \| analgesia \| 1 C0010495 \| cutis laxa \| 1 C0034194 \| pyloric stenosis \| 1 C0003493 \| aortic diseases \| 1 C0917996 \| cerebral aneurysm \| 1 C0740394 \| hyperuricemia \| 1 C0021845 \| bowel perforation \| 1 C0042373 \| vascular disease \| 1 C0003504 \| aortic regurgitation \| 1 C0003493 \| aortic disease \| 1 C0007570 \| gluten intolerance \| 1 C0035305 \| retinal detachment \| 1 C0024899 \| mastocytosis \| 1 C0007222 \| cardiovascular disease \| 1 C0020538 \| hypertension \| 1 C0038016 \| spondylolisthesis \| 1 C0042870 \| vitamin d deficiency \| 1 C0007789 \| cerebral palsy \| 1 C0002895 \| sickle cell disease \| 1 C0042870 \| vitamin d defic \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:21) 5034 \| P4HB \| UniProtKB-KW 1278 \| COL1A2 \| CLINVAR;GHR;UNIPROT;UniProtKB-KW 121340 \| SP7 \| UniProtKB-KW 64175 \| P3H1 \| CTD_human 60681 \| FKBP10 \| UniProtKB-KW 9871 \| SEC24D \| UniProtKB-KW 4041 \| LRP5 \| UniProtKB-KW 203859 \| ANO5 \| UniProtKB-KW 6687 \| SPG7 \| UniProtKB-KW 1277 \| COL1A1 \| CLINVAR;CTD_human;GHR;UNIPROT;UniProtKB-KW 5479 \| PPIB \| UniProtKB-KW 55151 \| TMEM38B \| UniProtKB-KW 5352 \| PLOD2 \| UniProtKB-KW 7471 \| WNT1 \| UniProtKB-KW 5176 \| SERPINF1 \| UniProtKB-KW 90993 \| CREB3L1 \| UniProtKB-KW 649 \| BMP1 \| UniProtKB-KW 387733 \| IFITM5 \| UniProtKB-KW 10491 \| CRTAP \| CTD_human;GHR;UNIPROT;UniProtKB-KW 871 \| SERPINH1 \| UniProtKB-KW 6678 \| SPARC \| CTD_human;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1277 \| COL1A1 \| CIPHER;CTD_human 1278 \| COL1A2 \| CIPHER 64175 \| P3H1 \| CTD_human 10491 \| CRTAP \| CTD_human 6678 \| SPARC \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:87) 93 \| ACVR2B \| 1.943 \| DISEASES 55811 \| ADCY10 \| 1.687 \| DISEASES 197 \| AHSG \| 1.301 \| DISEASES 1645 \| AKR1C1 \| 1.282 \| DISEASES 249 \| ALPL \| 1.423 \| DISEASES 265 \| AMELX \| 2.025 \| DISEASES 632 \| BGLAP \| 4.052 \| DISEASES 633 \| BGN \| 2.708 \| DISEASES 80114 \| BICC1 \| 1.694 \| DISEASES 650 \| BMP2 \| 2.095 \| DISEASES 149466 \| C1orf210 \| 1.308 \| DISEASES 8913 \| CACNA1G \| 1.822 \| DISEASES 796 \| CALCA \| 3.443 \| DISEASES 797 \| CALCB \| 1.723 \| DISEASES 22900 \| CARD8 \| 1.212 \| DISEASES 64084 \| CLSTN2 \| 1.337 \| DISEASES 1280 \| COL2A1 \| 2.897 \| DISEASES 1287 \| COL4A5 \| 1.754 \| DISEASES 1289 \| COL5A1 \| 2.668 \| DISEASES 1290 \| COL5A2 \| 1.256 \| DISEASES 90993 \| CREB3L1 \| 3.155 \| DISEASES 10491 \| CRTAP \| 7.008 \| DISEASES 1499 \| CTNNB1 \| 1.667 \| DISEASES 1733 \| DIO1 \| 1.573 \| DISEASES 22943 \| DKK1 \| 1.369 \| DISEASES 1747 \| DLX3 \| 3.268 \| DISEASES 1750 \| DLX6 \| 1.683 \| DISEASES 285489 \| DOK7 \| 2.065 \| DISEASES 79659 \| DYNC2H1 \| 1.863 \| DISEASES 5393 \| EXOSC9 \| 2.049 \| DISEASES 2224 \| FDPS \| 1.912 \| DISEASES 2261 \| FGFR3 \| 2.883 \| DISEASES 51661 \| FKBP7 \| 2.392 \| DISEASES 8326 \| FZD9 \| 1.206 \| DISEASES 25801 \| GCA \| 1.497 \| DISEASES 728441 \| GGT2 \| 1.243 \| DISEASES 2689 \| GH2 \| 1.055 \| DISEASES 92344 \| GORAB \| 1.771 \| DISEASES 23131 \| GPATCH8 \| 3.534 \| DISEASES 3347 \| HTN3 \| 1.663 \| DISEASES 23463 \| ICMT \| 1.285 \| DISEASES 387733 \| IFITM5 \| 6.345 \| DISEASES 3486 \| IGFBP3 \| 1.048 \| DISEASES 10656 \| KHDRBS3 \| 1.004 \| DISEASES 889 \| KRIT1 \| 1.533 \| DISEASES 26013 \| L3MBTL1 \| 1.688 \| DISEASES 54900 \| LAX1 \| 1.347 \| DISEASES 57134 \| MAN1C1 \| 1.436 \| DISEASES 8785 \| MATN4 \| 2.561 \| DISEASES 51360 \| MBTPS2 \| 1.195 \| DISEASES 79104 \| MEG8 \| 1.547 \| DISEASES 56955 \| MEPE \| 1.82 \| DISEASES 196410 \| METTL7B \| 1.553 \| DISEASES 8076 \| MFAP5 \| 1.831 \| DISEASES 4487 \| MSX1 \| 2.087 \| DISEASES 342977 \| NANOS3 \| 2.406 \| DISEASES 344022 \| NOTO \| 1.26 \| DISEASES 8481 \| OFD1 \| 1.294 \| DISEASES 5034 \| P4HB \| 1.796 \| DISEASES 5083 \| PAX9 \| 1.075 \| DISEASES 79955 \| PDZD7 \| 2.073 \| DISEASES 5251 \| PHEX \| 1.149 \| DISEASES 162466 \| PHOSPHO1 \| 2.677 \| DISEASES 5358 \| PLS3 \| 3.878 \| DISEASES 5521 \| PPP2R2B \| 1.038 \| DISEASES 5549 \| PRELP \| 1.548 \| DISEASES 5635 \| PRPSAP1 \| 2.501 \| DISEASES 5745 \| PTH1R \| 2.559 \| DISEASES 5744 \| PTHLH \| 1.3 \| DISEASES 860 \| RUNX2 \| 2.334 \| DISEASES 871 \| SERPINH1 \| 4.734 \| DISEASES 8910 \| SGCE \| 1.561 \| DISEASES 6080 \| SNORA73A \| 1.769 \| DISEASES 6696 \| SPP1 \| 2.24 \| DISEASES 6708 \| SPTA1 \| 1.263 \| DISEASES 7059 \| THBS3 \| 1.993 \| DISEASES 55151 \| TMEM38B \| 5.702 \| DISEASES 7148 \| TNXB \| 1.11 \| DISEASES 114034 \| TOE1 \| 2.68 \| DISEASES 83696 \| TRAPPC9 \| 1.56 \| DISEASES 7227 \| TRPS1 \| 1.11 \| DISEASES 7286 \| TUFT1 \| 1.938 \| DISEASES 10537 \| UBD \| 1.042 \| DISEASES 7360 \| UGP2 \| 1.508 \| DISEASES 30813 \| VSX1 \| 1.335 \| DISEASES 84627 \| ZNF469 \| 1.5 \| DISEASES 124626 \| ZPBP2 \| 1.937 \| DISEASES
Locus	(Waiting for update.)

Disease ID	128
Disease	osteogenesis imperfecta
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:66) HP:0000670 \| Carious teeth HP:0006487 \| Bowing of the long bones HP:0000682 \| Abnormality of dental enamel HP:0000239 \| Large fontanelles HP:0004322 \| Short stature HP:0003103 \| Abnormal cortical bone morphology HP:0000365 \| Hearing impairment HP:0000248 \| Brachycephaly HP:0000592 \| Blue sclerae HP:0005019 \| Diaphyseal thickening HP:0002645 \| Wormian bones HP:0000767 \| Pectus excavatum HP:0000347 \| Micrognathia HP:0001873 \| Thrombocytopenia HP:0004306 \| Abnormality of the endocardium HP:0001537 \| Umbilical hernia HP:0002564 \| Malformation of the heart and great vessels HP:0011073 \| Abnormality of dental color HP:0005692 \| Joint hyperflexibility HP:0000883 \| Thin ribs HP:0000164 \| Abnormality of the teeth HP:0000774 \| Narrow chest HP:0001511 \| Intrauterine growth retardation HP:0000772 \| Abnormality of the ribs HP:0002823 \| Abnormality of the femur HP:0004331 \| Decreased skull ossification HP:0000703 \| Dentinogenesis imperfecta HP:0000975 \| Hyperhidrosis HP:0003312 \| Abnormal form of the vertebral bodies HP:0007957 \| Corneal opacity HP:0001288 \| Gait disturbance HP:0000256 \| Macrocephaly HP:0002650 \| Scoliosis HP:0002757 \| Recurrent fractures HP:0000938 \| Osteopenia HP:0003179 \| Protrusio acetabuli HP:0000939 \| Osteoporosis HP:0003272 \| Abnormality of the hip bone HP:0002808 \| Kyphosis HP:0002992 \| Abnormality of the tibia HP:0100761 \| Visceral angiomatosis HP:0002857 \| Genu valgum HP:0000023 \| Inguinal hernia HP:0003100 \| Slender long bone HP:0000269 \| Prominent occiput HP:0000505 \| Visual impairment HP:0000444 \| Convex nasal ridge HP:0002980 \| Femoral bowing HP:0000325 \| Triangular face HP:0004586 \| Biconcave vertebral bodies HP:0000501 \| Glaucoma HP:0000768 \| Pectus carinatum HP:0000944 \| Abnormality of the metaphyses HP:0002983 \| Micromelia NULL \| Bone deformity NULL \| Hypermobile joints HP:0100959 \| Dense metaphyseal bands NULL \| Vertebral anomalies NULL \| vertebral fracture HP:0000938 \| Osteopenia HP:0000703 \| Dentinogenesis imperfecta HP:0000592 \| Blue sclerae HP:0000365 \| Hearing loss NULL \| Walking with assistance HP:0000325 \| Triangular face NULL \| popcorn calcif
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:43) HP:0000703 \| Dentinogenesis imperfecta \| 6 HP:0000939 \| Osteoporosis \| 4 HP:0002617 \| Aneurysmal dilatation \| 3 HP:0002814 \| Abnormality of the leg \| 2 HP:0002650 \| Scoliosis \| 2 HP:0002021 \| Pyloric stenosis \| 1 HP:0001388 \| Joint laxity \| 1 HP:0000822 \| Hypertension \| 1 HP:0000592 \| Bluish sclerae \| 1 HP:0002659 \| Increased tendency to fractures \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0001385 \| Congenital hip dysplasia \| 1 HP:0008443 \| Spinal deformities \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0000572 \| Visual loss \| 1 HP:0000541 \| Detached retina \| 1 HP:0002751 \| Kyphoscoliosis \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0002953 \| Vertebral compression fractures \| 1 HP:0002808 \| Gibbus deformity \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0002608 \| Celiac disease \| 1 HP:0100495 \| Mastocytosis \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0006765 \| Chondrosarcoma \| 1 HP:0000973 \| Dermatomegaly \| 1 HP:0012538 \| Gluten sensitivity \| 1 HP:0002149 \| Hyperuricemia \| 1 HP:0008454 \| Rounded lower back \| 1 HP:0002757 \| Multiple fractures \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0002645 \| Extra bones within cranial sutures \| 1 HP:0005619 \| Thoracolumbar kyphosis \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0002803 \| Congenital joint contractures \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0003302 \| Spondylolithesis \| 1

Disease ID	128
Disease	osteogenesis imperfecta
Manually Symptom	UMLS \| Name(Total Manually Symptoms:67) C2678504 \| osteoporosis C2242765 \| spondylolisthesis C2239253 \| aneurysm of sinus of valsalva C2046121 \| aortic dissection C2029884 \| hearing loss C1963229 \| retinal detachment C1963123 \| valvular heart disease C1962958 \| hematoma C1456865 \| ureteral stone C1393529 \| vascular complications C1390474 \| bone fragility C1384666 \| hearing impairment C0917996 \| cerebral aneurysms C0877045 \| atrial rupture C0740852 \| upper airway obstruction C0700208 \| scoliosis C0700109 \| rigidity C0600033 \| kyphoscoliosis C0581883 \| deafness C0542322 \| nontraumatic subdural hematoma C0494752 \| diaphragmatic hernia C0444720 \| circulatory arrest C0427008 \| stiffness C0376293 \| stigmata C0265343 \| vertebral anomalies C0264789 \| familial cardiomyopathy C0263490 \| brittle hair C0243050 \| cardiovascular abnormalities C0242084 \| ruptured cerebral aneurysm C0238621 \| aminoaciduria C0238045 \| carotid-cavernous fistula C0221002 \| primary hyperparathyroidism C0206640 \| cementifying fibroma C0152244 \| aneurysmal bone cyst C0151846 \| periosteum C0040997 \| trigeminal neuralgia C0037928 \| myelopathy C0034931 \| reflex sympathetic dystrophy syndrome C0030521 \| parathyroid tumour C0030486 \| paraplegia C0029899 \| otosclerosis C0029463 \| osteogenic sarcoma C0029166 \| oral manifestation C0026267 \| mitral valve prolapse C0026266 \| mitral insufficiency C0024591 \| malignant hyperpyrexia C0023234 \| perthes' disease C0022578 \| keratoconus C0020492 \| hyperostosis C0020443 \| hypercholesterolaemia C0020438 \| hypercalciuria C0020437 \| hypercalcaemia C0019087 \| hemorrhagic disease C0019080 \| hemorrhage C0018818 \| ventricular septal defect C0018801 \| cardiac failure C0018799 \| cardiac disease C0018777 \| conductive hearing loss C0015624 \| fanconi syndrome C0015467 \| facial neuralgia C0014122 \| infectious endocarditis C0011436 \| dentinogenesis imperfecta C0005940 \| bone disease C0005937 \| bone cysts C0005937 \| bone cyst C0003504 \| aortic regurgitation C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:16) C0011436 \| dentinogenesis imperfecta \| 6 C0029456 \| osteoporosis \| 4 C0002940 \| aneurysm \| 3 C0018824 \| valvular heart disease \| 2 C0036439 \| scoliosis \| 2 C0340643 \| aortic dissection \| 1 C0038016 \| spondylolisthesis \| 1 C0003504 \| aortic regurgitation \| 1 C0005940 \| bone disease \| 1 C0035305 \| retinal detachment \| 1 C1390474 \| bone fragility \| 1 C0243050 \| cardiovascular abnormalities \| 1 C0019080 \| hemorrhage \| 1 C1384666 \| hearing loss \| 1 C0029166 \| oral manifestation \| 1 C0345392 \| kyphoscoliosis \| 1

Manually Genotype(Total Manually Genotypes:47)
Gene	Mutation	DOI	Article Title
COL1A1	c.797G>A, p.Gly266Glu, Gly88Glu	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.1310G>A, p.Gly437Asp, Gly259Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2110G>A, p.Gly704Ser, Gly526Ser	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2308G>T, p.Gly770Cys, Gly592Cys	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2461G>C, p.Gly821Arg, Gly643Arg	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2471G>C, p.Gly824Ala, Gly646Ala	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2533G>A, p.Gly845Arg, Gly667Arg	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2588G>T, p.Gly863Val, Gly685Val	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.3065G>T, p.Gly1022Val, Gly844Val	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.3150_3158dup, p.Pro1051_Ala1053dup, Pro873_Ala875dup	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.4237G>A, p.Asp1413Asn, N/A	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.1971+1_+32del (IVS32+1_+32del)	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.1127G>A, p.Gly376Asp, Gly286Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.1360G>T, p.Gly454Cys, Gly364Cys	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.1631G>T, p.Gly544Val, Gly454Val	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.1426G>C, p.Gly476Arg, Gly298Arg	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.1661G>C, p.Gly554Ala, Gly376Ala	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.1778G>A, p.Gly593Asp, Gly415Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2002G>A, p.Gly668Ser, Gly490Ser	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2192G>T, p.Gly731Val, Gly553Val	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2228G>A, p.Gly743Asp, Gly565Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2290G>A, p.Gly764Ser, Gly586Ser	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2552G>A, p.Gly851Asp, Gly673Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.2725_2733del, p.Pro909_Gly911del, Pro731_Gly733del	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.3182G>A, p.Gly1061Asp, Gly883Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.3325G>A, p.Gly1109Ser, Gly931Ser	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.3831C>G, p.Asp1277Glu, N/A	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.3150_3158del, p.Pro1051_Ala1053del, Pro873_Ala875del	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A1	c.4238_4248dup, p.Ser1417Metfs*14, N/A	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.1033_1035delc, p.Val345del, Val255del	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.1684G>T, p.Gly562Cys, Gly472Cys	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.2144G>A, p.Gly715Asp, Gly625Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.2234G>A, p.Gly745Glu, Gly655Glu	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.2360G>A, p.Gly787Asp, Gly697Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.2701G>A, p.Gly901Ser, Gly811Ser	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.2981G>A, p.Gly994Asp, Gly904Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.3070G>C, p.Gly1024Arg, Gly934Arg	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.3115_3116delinsTT, p.Gly1039Phe, Gly949Phe	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.3260 G>A, p.Gly1087Asp, Gly997Asp	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
COL1A2	c.2133+5G>A (IVS35+5G>A)	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
CRTAP	c.[24_31del] + [24_31del], p.Ala10Serfs*148	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
CRTAP	c.[471+2C>A] + [471+2C>A]	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
CRTAP	c.[879delT] + [879delT], p.Phe293Leufs*16	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
LEPRE1	c.[1080+1G>T] + [1080+1G>T]	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
PPIB	c.[120delC] + [313G>A], p.[Val42Serfs*16] + [Gly105Arg]	doi:10.1097/GIM.0b013e318202e0f6	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
P3H1	LEPRE1 c.1080+1G>T)	doi:10.1038/gim.2011.44	A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
COL1A1	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:46)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912905	1990009	1278	COL1A2	umls:C0029434	BeFree	A child with a moderately severe form of osteogenesis imperfecta was heterozygous for a G to T transition that resulted in a substitution of cysteine for glycine at position 259 in the COL1A2 gene.	0.184706362	1991	COL1A2	7	94408806	G	T
rs139388334	23381775	1277	COL1A1	umls:C0029434	BeFree	Students were provided with the sequence of the OI affected COL1A1 PCR product aligned with the normal COL1A1 sequence, allowing identification of the mutation, as the substitution of Arg for Gly(976) of the triple helical region.	0.315633557	2012	COL1A1	17	50185639	C	T
rs139446305	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94411099	G	A
rs139955975	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195937	C	T
rs144751329	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50194380	C	T
rs193922137	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195958	C	A
rs193922138	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195296	G	C
rs193922140	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50194419	C	G
rs193922141	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50194141	T	-
rs193922143	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50193003	A	-
rs193922144	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50191853	G	A
rs193922145	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50191457	G	A
rs193922147	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50190381	C	G,A
rs193922148	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50190360	A	-
rs193922149	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50190328	G	-
rs193922150	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189878	C	T
rs193922151	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189521	A	-
rs193922152	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189208	T	C
rs193922153	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189173	G	A
rs193922154	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50199589	CT	-
rs193922155	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50199329	T	C
rs193922157	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50198459	C	T,A
rs193922158	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50197065	T	C
rs193922159	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94410478	C	A
rs193922162	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94417733	G	A
rs193922165	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94425655	G	A
rs193922166	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94427006	A	-
rs193922167	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94427643	C	-
rs193922168	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94427714	G	C
rs193922173	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94408220	G	A
rs193922175	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94409377	GTG	-
rs66612022	16705691	1278	COL1A2	umls:C0029434	BeFree	Haplotype analysis of the COL1A2 gene revealed that four probands from five independent OI probands with c.982G>A (p.Gly328Ser) had a common haplotype.	0.184706362	2006	COL1A2	7	94409768	G	A,T
rs67815019	21594610	1277	COL1A1	umls:C0029434	BeFree	We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI.	0.315633557	2011	COL1A1	17	50187041	C	T,A
rs67815019	23079818	1277	COL1A1	umls:C0029434	BeFree	Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.	0.315633557	2012	COL1A1	17	50187041	C	T,A
rs72645323	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50197027	C	T
rs72645328	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50196670	C	T
rs72645357	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50196163	C	T
rs72648320	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195433	C	T
rs72653173	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50188765	G	A
rs72654802	21594610	1277	COL1A1	umls:C0029434	BeFree	We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI.	0.315633557	2011	COL1A1	17	50188122	C	T
rs72654802	23079818	1277	COL1A1	umls:C0029434	BeFree	Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.	0.315633557	2012	COL1A1	17	50188122	C	T
rs72656387	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94409367	G	A
rs72656392	7961597	1278	COL1A2	umls:C0029434	BeFree	Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.	0.184706362	1994	COL1A2	7	94409732	G	C
rs72656392	7961597	146	ADRA1D	umls:C0029434	BeFree	Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.	0.019272373	1994	COL1A2	7	94409732	G	C
rs72658154	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94418518	G	A
rs72667023	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50198170	A	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:26)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000670	Carious teeth	MP:0004033	supernumerary teeth	occurrence of more than the usual number of teeth
HP:0002645	Wormian bones	MP:0008915	fused carpal bones	anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together
HP:0003272	Abnormality of the hip bone	MP:0009536	abnormal interstitial cell of Cajal morphology	any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0000772	Abnormality of the ribs	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0003100	Slender long bone	MP:0013624	decreased femur compact bone thickness	reduced width of the superficial layer of compact bone at the midpoint of the femur
HP:0000774	Narrow chest	MP:0004134	abnormal chest morphology	any structural anomaly of the part of the body between the neck and the abdomen
HP:0004306	Abnormality of the endocardium	MP:0009889	persistence of medial edge epithelium during palatal shelf fusion	palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam
HP:0011073	Abnormality of dental color	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0004586	Biconcave vertebral bodies	MP:0004703	abnormal vertebral column morphology	any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord
HP:0006487	Bowing of the long bones	MP:0013621	decreased internal diameter of femur	reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0003103	Abnormal cortical bone morphology	MP:0013640	increased bone stiffness	increase in material stiffness (N/mm) during elastic deformation
HP:0000325	Triangular face	MP:0012546	triangular face	a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia
HP:0000023	Inguinal hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0003312	Abnormal form of the vertebral bodies	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001537	Umbilical hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0004331	Decreased skull ossification	MP:0020040	decreased bone ossification	decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002757	Recurrent fractures	MP:0004675	rib fractures	a crack or break in the bones forming the bony wall of the chest
HP:0000883	Thin ribs	MP:0004674	thin ribs	a more slender appearance of the bones forming the bony wall of the chest
HP:0002992	Abnormality of the tibia	MP:0012528	abnormal zone of polarizing activity morphology	any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the
HP:0000682	Abnormality of dental enamel	MP:0012069	abnormal horizontal basal cell of olfactory epithelium morphology	any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0001511	Intrauterine growth retardation	MP:0011109	lethality throughout fetal growth and development, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0000444	Convex nasal ridge	MP:0004471	short nasal bone	reduced length of either of two rectangular bone plates forming the bridge of the nose
HP:0000944	Abnormality of the metaphyses	MP:0013621	decreased internal diameter of femur	reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0002823	Abnormality of the femur	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000164	Abnormality of the teeth	MP:0010382	abnormal dosage compensation, by inactivation of X chromosome	anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
HP:0007957	Corneal opacity	MP:0009859	eye opacity	changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life

Mapped by homologous gene(Total Items:53)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002650	Scoliosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002645	Wormian bones	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000325	Triangular face	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000164	Abnormality of the teeth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000774	Narrow chest	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0004306	Abnormality of the endocardium	MP:0011143	thick lung-associated mesenchyme	increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development
HP:0001288	Gait disturbance	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003103	Abnormal cortical bone morphology	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000592	Blue sclerae	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0003179	Protrusio acetabuli	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000682	Abnormality of dental enamel	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002980	Femoral bowing	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000347	Micrognathia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0003100	Slender long bone	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000501	Glaucoma	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000772	Abnormality of the ribs	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000269	Prominent occiput	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001511	Intrauterine growth retardation	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0007957	Corneal opacity	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000248	Brachycephaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000938	Osteopenia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000939	Osteoporosis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002857	Genu valgum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001873	Thrombocytopenia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0006487	Bowing of the long bones	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000670	Carious teeth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000444	Convex nasal ridge	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002757	Recurrent fractures	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000768	Pectus carinatum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0011073	Abnormality of dental color	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000883	Thin ribs	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000767	Pectus excavatum	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000975	Hyperhidrosis	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0100761	Visceral angiomatosis	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002992	Abnormality of the tibia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002983	Micromelia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000365	Hearing impairment	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0004586	Biconcave vertebral bodies	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000944	Abnormality of the metaphyses	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003312	Abnormal form of the vertebral bodies	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001537	Umbilical hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0005019	Diaphyseal thickening	MP:0013178	tail necrosis	morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage
HP:0000023	Inguinal hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000256	Macrocephaly	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005692	Joint hyperflexibility	MP:0012125	decreased bronchoconstrictive response	reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0002823	Abnormality of the femur	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004331	Decreased skull ossification	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002808	Kyphosis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000703	Dentinogenesis imperfecta	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000505	Visual impairment	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003272	Abnormality of the hip bone	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000239	Large fontanelles	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals

Disease ID	128
Disease	osteogenesis imperfecta
Case	(Waiting for update.)